Mutation Details for c.273+3A>C
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cDNA Name
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c.273+3A>C
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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405+3A->C
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Other Details
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The 405+3A->C alteration was seen on 2 African-American CF chromosomes of 50 screened, one male and one female. ASO analysis revealed this alteration on one of 194 normal African-American chromosomes and one of 181 non-CF Caucasian chromosomes. It appears that this alteration is not a deleterious mutation, but a polymorphism. One patient carries [delta]F508 on the other allele; the other has an as-yet unidentified mutation. Both are pancreatic insufficient with moderate to severe lung disease.
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Contributors
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Hamosh A,
Kiesewetter S,
Macek MJr,
Davis C,
Cutting GR
1993-08-17
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Institute
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Johns Hopkins Hospital
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Hamosh et al. (NL#54)
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